Disease at a Glance

Congenital thrombotic thrombocytopenic purpura (congenital TTP) is a blood disorder in which blood clots form in the small blood vessels throughout the body. Symptoms typically develop in infancy or early childhood, but in some cases they do not develop until adulthood. Symptoms generally are due to hemolytic anemia, low platelets (thrombocytopenia), and neurologic dysfunction. Symptoms of anemia can include fatigue, paleness, jaundice, shortness of breath, and a rapid heart rate. Widespread thrombosis (abnormal clotting) can lead to problems with the nervous system (such as personality changes, headaches, confusion, and seizures), abnormal kidney function, heart problems, and gastrointestinal problems. Congenital TTP is caused by changes in the ADAMTS13 gene and inheritance is autosomal recessive.
Estimated Number of People with this Disease
In the U.S., this disease is estimated to be fewer than


What Information Does GARD Have For This Disease?

Many rare diseases have limited information. Currently GARD is able to provide the following information for this disease:

*Data may be currently unavailable to GARD at this time.
When do symptoms of this disease begin?
The most common ages for symptoms of a disease to begin is called age of onset. Age of onset can vary for different diseases and may be used by a doctor to determine the diagnosis. For some diseases, symptoms may begin in a single age range or several age ranges. For other diseases, symptoms may begin any time during a person's life.
Before Birth
Newborn Selected
Birth-4 weeks
Infant Selected
1-23 months
Child Selected
2-11 years
12-18 years
Adult Selected
19-65 years
Older Adult
65+ years
The common ages for symptoms to begin in this disease are shown above by the colored icon(s).


This section is currently in development. We recommend speaking with a doctor to learn more about this disease. 


Genetic Disease

Congenital thrombotic thrombocytopenic purpura is a genetic disease, which means that it is caused by one or more genes not working correctly.

Disease causing variants in the following gene(s) are known to cause this disease: ADAMTS13



All individuals inherit two copies of most genes. The number of copies of a gene that need to have a disease-causing variant affects the way a disease is inherited. This disease is inherited in the following pattern(s):


Last Updated: Nov. 8, 2021